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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral...

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Bibliografski detalji
Glavni autori: Greenberg, F, Guzzetta, V, Montes de Oca-Luna, R, Magenis, R E, Smith, A C, Richter, S F, Kondo, I, Dobyns, W B, Patel, P I, Lupski, J R
Format: Artigo
Jezik:Inglês
Izdano: 1991
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1686451/
https://ncbi.nlm.nih.gov/pubmed/1746552
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